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Trisomy 18 syndrome

ORPHA:3380 · Malformation syndrome · Disorder

HPO 表現型（共 74 項）

Very frequent (99-80%)(25)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Atrial septal defectHP:0001631
  • CachexiaHP:0004326
  • Camptodactyly of fingerHP:0100490
  • Cognitive impairmentHP:0100543
  • CryptorchidismHP:0000028
  • Deviation of fingerHP:0004097
  • DolichocephalyHP:0000268
  • Global developmental delayHP:0001263
  • Growth delayHP:0001510
  • HypertelorismHP:0000316
  • HypertoniaHP:0001276
  • HypotoniaHP:0001252
  • Intrauterine growth retardationHP:0001511
  • MicroretrognathiaHP:0000308
  • Narrow palateHP:0000189
  • Narrow pelvis boneHP:0003275
  • OmphaloceleHP:0001539
  • Pointed helixHP:0100810
  • Posteriorly rotated earsHP:0000358
  • Prominent occiputHP:0000269
  • Severe intellectual disabilityHP:0010864
  • Short statureHP:0004322
  • Triangular faceHP:0000325
  • Ventricular septal defectHP:0001629

Frequent (79-30%)(31)

  • Abnormal cranial suture/fontanelle morphologyHP:0000235
  • Abnormal hip bone morphologyHP:0003272
  • Abnormal morphology of female internal genitaliaHP:0000008
  • Abnormality of the upper urinary tractHP:0010935
  • Anal atresiaHP:0002023
  • Bilateral single transverse palmar creasesHP:0007598
  • BlepharophimosisHP:0000581
  • BrachycephalyHP:0000248
  • Central apneaHP:0002871
  • Choanal atresiaHP:0000453
  • Choroid plexus cystHP:0002190
  • Cleft palateHP:0000175
  • Congenital diaphragmatic herniaHP:0000776
  • Delayed skeletal maturationHP:0002750
  • EpicanthusHP:0000286
  • Esophageal atresiaHP:0002032
  • Feeding difficulties in infancyHP:0008872
  • Gastroesophageal refluxHP:0002020
  • HerniaHP:0100790
  • Horseshoe kidneyHP:0000085
  • HydronephrosisHP:0000126
  • Hypoplasia of the nasal boneHP:0004646
  • Increased nuchal translucencyHP:0010880
  • MicrocephalyHP:0000252
  • Non-midline cleft of the upper lipHP:0100335
  • Overlapping fingersHP:0010557
  • PolyhydramniosHP:0001561
  • SeizureHP:0001250
  • Single umbilical arteryHP:0001195
  • Small nailHP:0001792
  • Talipes equinovarusHP:0001762

Occasional (29-5%)(18)

  • Abnormal retinal pigmentationHP:0007703
  • Abnormal rib morphologyHP:0000772
  • Abnormality of the lower limbHP:0002814
  • Abnormality of the upper limbHP:0002817
  • AnencephalyHP:0002323
  • Aplasia/Hypoplasia of the corpus callosumHP:0007370
  • Aplasia/Hypoplasia of the radiusHP:0006501
  • CataractHP:0000518
  • Cerebellar hypoplasiaHP:0001321
  • Chiari malformationHP:0002308
  • Corneal opacityHP:0007957
  • Hand clenchingHP:0001188
  • HoloprosencephalyHP:0001360
  • Iris colobomaHP:0000612
  • MicrophthalmiaHP:0000568
  • Pyloric stenosisHP:0002021
  • Short sternumHP:0000879
  • Spina bifidaHP:0002414